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Results for "GORASP1"
Variant Events: 11
Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
GORASP1
PN400317
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400495
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400542
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400533
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400568
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400113
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400157
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400544
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
mAGRE5195
chr3:
39140862-39140862
G
A
exonic
Paternal
stopgain
NM_001278790
NM_001278789
NM_031899
c.C433T
c.C613T
c.C898T
p.Q145X
p.Q205X
p.Q300X
40.0
-
Cirnigliaro2023
G
GORASP1
PN400102
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
GORASP1
PN400284
chr3:
39140352-39140352
C
A
exonic
Unknown
nonsynonymous SNV
NM_001278790
NM_001278789
NM_031899
c.G484T
c.G664T
c.G949T
p.D162Y
p.D222Y
p.D317Y
19.94
0.0086
Leblond2019
E
Source Variant Information
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Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
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